Pharmacogenetics and pharmacogenomics: practical applications in routine medical practice

A report of the 3rd joint European Science Foundation and University of Barcelona Conference in Biomedicine, San Feliu de Guixols, Catalonia, Spain, 6-11 June 2010

AdDIT Editorial comment—challenges in medication treatment of renal and cardiovascular diseases and risk factors in adolescents with type 1 diabetes

A large body of evidence revealed that compared with children and adolescents in the general population, those with type 1 diabetes mellitus (T1DM) are at excessive risk of diabetes related complications (1,2). Presence and long-term diabetes complications are known to increase cardiovascular (CV) morbidity and mortality in population with T1DM in which 26.1% of all deaths are associated with diabetes complications (3)

Современные представления о супружеских конфликтах и супружеской дезадаптации

Рассмотрены современные данные о семейных конфликтах и связанной с ними супружеской дезадаптации. Сделан вывод о необходимости дальнейшей разработки этой проблемы.Modern data about family conflicts and the associated spouse deadaptation are discussed. The author concludes about the necessity of further investigation of the issue

Pharmacogenomic insights into treatment and management of statin-induced myopathy

Although statins are generally well tolerated, the most common adverse drug reaction from statin therapy is myopathy. This article reviews the current pharmacogenomic knowledge of statin-induced myopathy. Furthermore, we will discuss the importance of recent pharmacogenetic advances for the treatment and management of statin-induced myopathy. Variation in the SLCO1B1 gene is associated with increased incidence of statin-induced myopathy, particularly with simvastatin and less so with other statins. If different pharmacokinetic enzymes and transporters are responsible for susceptibility to myopathy, this may explain differences in the occurrence of statin-induced myopathy in individual patients. Genotyping in patients suffering from statin-induced myopathy may help to personalize the choice of statin for the lowest chance of developing myopathy

Mining treatment patterns of glucose-lowering medications for type 2 diabetes in the Netherlands

Rationale and objectives Different classes of glucose-lowering medications are used for patients with type 2 diabetes mellitus (T2DM) management. It is unclear how often these medications are prescribed in clinical practice. In this study, we aimed to describe treatment patterns of glucose-lowering medications in patients with T2DM in the Netherlands. Methods We studied a cohort of 73 819 patients with T2DM, aged ≥45 years with a first prescription for oral glucose-lowering medication between 2011 and 2017. We used the NControl database with dispensing data from 800 pharmacies in the Netherlands. Prevalence of each glucose-lowering medication class during 6 years after the index date was calculated. Using SQL Server, we identified stepwise patterns of medication prescription in this population. Findings During the study period, prevalence of biguanides (BIGU) decreased from 95.6% to 80.8% and use of sulfonylureas (SU) increased from 27.3% to 42.3%. 55.2% of all patient

Economic evaluation of a pharmacogenetic dosing algorithm for coumarin anticoagulants in The Netherlands

AIM: To investigate the cost-effectiveness of a pharmacogenetic dosing algorithm versus a clinical dosing algorithm for coumarin anticoagulants in The Netherlands. MATERIALS & METHODS: A decision-analytic Markov model was used to analyze the cost-effectiveness of pharmacogenetic dosing of phenprocoumon and acenocoumarol versus clinical dosing. RESULTS: Pharmacogenetic dosing increased costs by €33 and quality-adjusted life-years (QALYs) by 0.001. The incremental cost-effectiveness ratios were €28,349 and €24,427 per QALY gained for phenprocoumon and acenocoumarol, respectively. At a willingness-to-pay threshold of €20,000 per QALY, the pharmacogenetic dosing algorithm was not likely to be cost effective compared with the clinical dosing algorithm. CONCLUSION: Pharmacogenetic dosing improves health only slightly when compared with clinical dosing. However, availability of low-cost genotyping would make it a cost-effective option

FCER2 T2206C variant associated with FENO levels in asthmatic children using inhaled corticosteroids: The PACMAN study

Background: The FCER2 gene, via encoding of the CD23 receptor, plays an important role in the regulation of IgE responses. A genetic variant of the FCER2 gene (T2206C) was previously shown to be associated with IgE levels in asthmatic children. IgE sen‐ sitization has also been linked to increased levels of fractional exhaled nitric oxide (FENO). Objective: To investigate whether the FCER2 T2206C variant influences FENO levels in asthmatic children with a reported use of inhaled corticosteroids (ICS). Methods: This cross‐sectional study involved 593 asthmatic children with a reported use of ICS, availability of FENO measurements and genotyping data on the FCER2 T2206C variant (rs28364072). An additive genetic model was assumed, and the asso‐ ciation between the FCER2 T2206C variant and the log‐transformed (ln) FENO levels was evaluated using linear regression analysis, adjusted for age, sex, adapted British Thoracic Society (BTS) treatment steps and atopy. Results: The mean age of the population was 9.1 ± 2.2 years, and the median of FENO levels was 13.0 ppb with an interquartile range (IQR) of (8.0‐27.5 ppb). The minor al‐ lele (G) frequency of rs28364072 was 29.6%, and each extra copy of the G allele was significantly associated with a lower level of the geometric mean of FENO (log scale, β = −0.12, 95% CI: −0.23, −0.02). Conclusion and Clinical Relevance: Our results showed that the FCER2 T2206C vari‐ ant was significantly associated with lower FENO levels in carriers of the G allele. Nevertheless, this SNP contributed little to the variability in FENO levels in this pa‐ tient population. Our findings contribute to the present knowledge on FENO in asth‐ matic children; however, future replication studies are required to establish the role of this gene in relation to FENO